日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

PTBP1 变异体表现出核质分布改变,是导致伴有骨骼发育不良的神经发育障碍的原因。

Masson, Aymeric; Paccaud, Julien; Orefice, Martina; Colin, Estelle; Mäkitie, Outi; Cormier-Daire, Valérie; Relator, Raissa; Ghosh, Sourav; Strub, Jean-Marc; Schaeffer-Reiss, Christine; Marcelis, Carlo; Koolen, David A; Pfundt, Rolph; de Boer, Elke; Vissers, Lisenka Elm; Gardeitchik, Thatjana; Aarts, Lonneke Am; Rinne, Tuula; Terhal, Paulien A; Verbeek, Nienke E; Zuurbier, Linda C; Plomp, Astrid S; Wessels, Marja W; de Man, Stella A; Bouman, Arjan; Bird, Lynne M; Saadeh-Haddad, Reem; Guillen Sacoto, Maria J; Person, Richard; Gooch, Catherine; Hurst, Anna Ce; Thompson, Michelle L; Hiatt, Susan M; Littlejohn, Rebecca O; Roeder, Elizabeth R; Mori, Mari; Hickey, Scott E; Hunter, Jesse M; Lee, Kristy; Osman, Khaled; Halloun, Rana; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Duplomb-Jego, Laurence; El It, Fatima; Duffourd, Yannis; Tran Mau-Them, Frédéric; Huber, Celine; Gordon, Christopher T; Taylan, Fulya; Mäkitie, Riikka E; Costantini, Alice; Valta, Helena; Robertson, Stephen; Poke, Gemma; Francoise, Michel; Ciolfi, Andrea; Tartaglia, Marco; Ekhilevitch, Nina; Zaid, Rinat; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Delanne, Julian; Chevarin, Martin; Vautrot, Valentin; Bourgeois, Valentin; Nguyen, Sylvie; Marle, Nathalie; Callier, Patrick; Safraou, Hana; Morgan, Angela; Amor, David J; Hildebrand, Michael S; Coman, David; Aubert Mucca, Marion; Thevenon, Julien; Laffargue, Fanny; Bilan, Frédéric; Pebrel-Richard, Céline; Yoon, Grace; Axford, Michelle M; Pérez-Jurado, Luis A; Sevilla-Porras, Marta; Black, Douglas L; Philippe, Christophe; Sadikovic, Bekim; Thauvin-Robinet, Christel; Olivier-Faivre, Laurence; Ori, Michela; Thomas, Quentin; Vitobello, Antonio

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum

先天性肌钙蛋白病:疾病谱中最严重阶段的全面特征描述

Coppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S; Griffin, Kaitlyn R; Jones, Kristi J; Vilain, Catheline N; Kadhim, Hazim; Bryen, Samantha J; Faiz, Fathimath; Waddell, Leigh B; Evesson, Frances J; Bakshi, Madhura; Pinner, Jason R; Charlton, Amanda; Brammah, Susan; Graf, Nicole S; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C; Illingworth, Marjorie A; Thomas, Neil H; Ellard, Sian; Mazanti, Ingrid; Park, Soo-Mi; French, Courtney E; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J; Splitt, Miranda P; Moldovan, Corina; de Silva, Deepthi C; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T; Laing, Nigel G; Raymond, F Lucy; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Manzur, Adnan; Corley, Susan M; Ravenscroft, Gianina; Wilkins, Marc R; Cowley, Mark J; Pinese, Mark; Phadke, Rahul; Davis, Mark R; Muntoni, Francesco; Oates, Emily C

Rhabdomyolysis in the Era of Next-Generation Sequencing: Selecting Patients with a High Likelihood of a Genetic Susceptibility Using 'RHABDO' Features

新一代测序时代的横纹肌溶解症:利用“RHABDO”特征筛选具有高遗传易感性的患者

Kruijt, Nick; van de Camp, Sanne A J H; Kramer, Jasper J; van den Bersselaar, Luuk R; Schouten, Meyke; Gardeitchik, Thatjana; Jungbluth, Heinz; Bhai, Salman; van der Kooi, Anneke J; Kamsteeg, Erik-Jan; Voermans, Nicol C

Missense variants in TUBA4A cause myo-tubulinopathies

TUBA4A基因的错义变异会导致肌微管病

Johari, Mridul; Folland, Chiara; Saito, Yoshihiko; Oud, Machteld M; Parmar, Jevin M; Töpf, Ana; Kurbatov, Sergei; Ampleeva, Maria; Zakharova, Ekaterina Y; Chekmareva, Irina A; Shirokova, Ksenia S; Atiakshin, Dmitrii; Gardeitchik, Thatjana; Kamsteeg, Erik-Jan; Medici, Evita; Kaat, Laura Donker; Bruels, Christine C; Stafki, Seth A; Estrella, Elicia A; Littel, Hannah R; Kunkel, Louis M; Kang, Peter B; Osei-Owusu, Ikeoluwa; Pais, Lynn; O'Leary, Melaine; Austin-Tse, Christina; O'Donnell-Luria, Anne; Mangilog, Brian; Radio, Francesca Clementina; D'Amico, Adele; Ciolfi, Andrea; Tartaglia, Marco; Perrin, Aurélien; Van Goethem, Charles; Sole, Guilhem; Martin-Négrier, Marie-Laure; Cossée, Mireille; Genetti, Casie A; Valivullah, Zaheer M; Milic, Vedrana; Kovacevic, Gordana; Kosac, Ana; Moreno, Cristiane A M; Camelo, Clara Gontijo; Zanoteli, Edmar; Fahey, Michael C; Beggs, Alan H; Vissing, John; Straub, Volker; Savarese, Marco; Tasca, Giorgio; Voermans, Nicol; Laing, Nigel G; Udd, Bjarne; Nishino, Ichizo; Ravenscroft, Gianina

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

KCND1变异体与X连锁神经发育障碍的病因学关联,该障碍具有可变表达性

Kalm, Tassja; Schob, Claudia; Völler, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Klöckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E H; van Jaarsveld, Richard H; Oegema, Renske; van Gassen, Koen L I; Holwerda, Sjoerd J B; Barakat, Tahsin Stefan; Bouman, Arjan; van Slegtenhorst, Marjon; Álvarez, Sara; Fernández-Jaén, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylène; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K; Orenstein, Naama; Bernard, Geneviève; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortüm, Fanny; Kubisch, Christian; Bähring, Robert; Kindler, Stefan

Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies

来自 4800 个外显子组的拷贝数变异导致了约 7% 的运动障碍、肌肉疾病和神经病变的遗传诊断。

Pennings, Maartje; Meijer, Rowdy P P; Gerrits, Monique; Janssen, Jannie; Pfundt, Rolph; de Leeuw, Nicole; Gilissen, Christian; Gardeitchik, Thatjana; Schouten, Meyke; Voermans, Nicol; van de Warrenburg, Bart; Kamsteeg, Erik-Jan

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

位于浮港综合征基因座之外的SRCAP截断变异会导致一种独特的神经发育障碍,并具有特定的DNA甲基化特征。

Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J M; Goodman, Sarah J; Siu, Michelle T; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B A; Deden, A Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T R M; Stevens, Servi J C; Vermeulen, Jeroen R; van Harssel, Jeske V T; Bosch, Danielle G M; van Gassen, Koen L I; van Binsbergen, Ellen; de Geus, Christa M; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W; Berry, Ian R; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M; Radley, Jessica A; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G; Õunap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, María; Pacio-Míguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tønne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Małgorzata J M; Cohn, Ronald D; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W; Brunner, Han G; Vissers, Lisenka E L M; Kleefstra, Tjitske; Koolen, David A; Weksberg, Rosanna

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

ATP6V1E1 或 ATP6V1A 基因突变导致常染色体隐性遗传性皮肤松弛症

Van Damme, Tim; Gardeitchik, Thatjana; Mohamed, Miski; Guerrero-Castillo, Sergio; Freisinger, Peter; Guillemyn, Brecht; Kariminejad, Ariana; Dalloyaux, Daisy; van Kraaij, Sanne; Lefeber, Dirk J; Syx, Delfien; Steyaert, Wouter; De Rycke, Riet; Hoischen, Alexander; Kamsteeg, Erik-Jan; Wong, Sunnie Y; van Scherpenzeel, Monique; Jamali, Payman; Brandt, Ulrich; Nijtmans, Leo; Korenke, G Christoph; Chung, Brian H Y; Mak, Christopher C Y; Hausser, Ingrid; Kornak, Uwe; Fischer-Zirnsak, Björn; Strom, Tim M; Meitinger, Thomas; Alanay, Yasemin; Utine, Gulen E; Leung, Kai Ching Peter; Ghaderi-Sohi, Siavash; Coucke, Paul; Symoens, Sofie; De Paepe, Anne; Thiel, Christian; Haack, Tobias B; Malfait, Fransiska; Morava, Eva; Callewaert, Bert; Wevers, Ron A

Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa

膜酶界面磷脂酰肌醇4-激酶2α型(PI4K2A)的新缺陷与代谢性皮肤松弛症相关

Mohamed, Miski; Gardeitchik, Thatjana; Balasubramaniam, Shanti; Guerrero-Castillo, Sergio; Dalloyaux, Daisy; van Kraaij, Sanne; Venselaar, Hanka; Hoischen, Alexander; Urban, Zsolt; Brandt, Ulrich; Al-Shawi, Raya; Simons, J Paul; Frison, Michele; Ngu, Lock-Hock; Callewaert, Bert; Spelbrink, Hans; Kallemeijn, Wouter W; Aerts, Johannes M F G; Waugh, Mark G; Morava, Eva; Wevers, Ron A

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies

线粒体核糖体蛋白MRPS2的双等位基因突变会导致感觉神经性听力损失、低血糖和多种氧化磷酸化复合物缺陷。

Gardeitchik, Thatjana; Mohamed, Miski; Ruzzenente, Benedetta; Karall, Daniela; Guerrero-Castillo, Sergio; Dalloyaux, Daisy; van den Brand, Mariël; van Kraaij, Sanne; van Asbeck, Ellyze; Assouline, Zahra; Rio, Marlene; de Lonlay, Pascale; Scholl-Buergi, Sabine; Wolthuis, David F G J; Hoischen, Alexander; Rodenburg, Richard J; Sperl, Wolfgang; Urban, Zsolt; Brandt, Ulrich; Mayr, Johannes A; Wong, Sunnie; de Brouwer, Arjan P M; Nijtmans, Leo; Munnich, Arnold; Rötig, Agnès; Wevers, Ron A; Metodiev, Metodi D; Morava, Eva